Computed Tomography in Ataxia-Telangiectasia

Assencio-Ferreira, Vicente José; Bancovsky, Ismar; Diament, Aron Judka; Gherpelli, José Luiz Dias; Moreira, Fernando Alves

doi:10.1097/00004728-198110000-00010

Cited by 10 publications

(3 citation statements)

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“…All cerebellar atrophy was reported on MRI, except for 46 cases; 21 cases (8 studies [ 119 , 123 , 139 , 145 , 159 , 180 , 299 , 392 ]) reported it after CT scan, 12 cases (7 studies [ 108 , 231 , 276 , 345 , 347 , 358 , 464 ]) reported it at post-mortem, 11 cases (5 studies [ 191 , 225 , 355 , 378 , 467 ]) reported cerebellar atrophy but did not report the imaging modality, and 2 cases [ 237 , 298 ] reported it on pneumoencephalogram.…”

Section: Resultsmentioning

confidence: 99%

“…2642 cases (346 studies [ 17 – 19 , 23 , 24 , 29 , 35 – 38 , 42 , 47 , 49 , 75 , 80 , 87 , 91 , 99 – 101 , 103 , 104 , 106 – 113 , 115 , 116 , 118 – 126 , 128 , 129 , 131 , 132 , 134 , 138 , 139 , 141 , 143 , 145 , 147 , 149 , 150 , 152 , 155 , 158 , 166 , 168 , 172 , 174 – 176 , 180 , 181 , 222 – 234 , 236 – 240 , 242 , 244 , 247 , 248 , …”

Section: Resultsunclassified

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The natural history of ataxia-telangiectasia (A-T): A systematic review

et al. 2022

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Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. Objectives Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. Search methods 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. Selection criteria All human studies that report any aspect of A-T. Data collection and analysis Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. Main results 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). Conclusions This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsunclassified

The natural history of ataxia-telangiectasia (A-T): A systematic review

et al. 2022

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“…[33][34][35] Neuroimaging features described in ataxia telangiectasia include cerebellar and vermal atrophy; however, normal scans have been reported. 13,36 The fmding of extensive white-matter demyelination, both generalized and multifocal, has not been described. Computed tomographic scan changes described in the literature correlate well with neuropathologic findings of gross cerebellar and vermal atrophy.3,37-40 Microscopically, extensive cortical cerebellar degeneration involving mainly the Purkinje and granular cells is seen.…”

Section: Discussionmentioning

confidence: 99%

Cerebral White-Matter Changes Suggesting Leukodystrophy in Ataxia Telangiectasia

1994

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Ataxia telangiectasia is an autosomal recessive disorder characterized by progressive cerebellar ataxia, recurrent sinopulmonary infections, oculocutaneous telangiectasia, selective immunoglobulin deficiency, and defective cellular immunity. We report a 4-year-old girl with ataxia telangiectasia whose initial magnetic resonance imaging (MRI) scan at 17 months of age showed leukoencephalopathy compatible with a leukodystrophy, a neuroimaging feature of ataxia telangiectasia that has not been described. Ataxia telangiectasia was not suspected until the child developed more typical clinical features. Diffuse white-matter high signal intensity on T2-weighted MRI scans may occur in the early stages of ataxia telangiectasia. This disease should be considered in the differential diagnosis of any child with a history and MRI findings suggestive of one of the leukodystrophies. The nonneurologic manifestations of ataxia telangiectasia may be of help diagnostically in this clinical setting.

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